A novel mutation in NF1 gene in a Chinese patient with Legius syndrome like café au lait spots ()
ABSTRACT
Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius
syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge
to differentiate the two diseases. Here we report a Legius syndrome-like
patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G > T). The mutation
caused a substitution of a glutamic acid (GAG) with a terminator codon (TAG). For those patients with only
multiple café au lait macules, axillary and inguinal freckling, but
without any other clinical signs in NF1 and Legius syndrome, a gene testing is
necessary to give a final diagnose. We suggested to use “Neurofibromatosis
type 1—like syndrome”
to describe those patients just like our patient reported here.
Share and Cite:
Zheng, D. and Duan, X. (2013) A novel mutation in
NF1 gene in a Chinese patient with Legius syndrome like café au lait spots.
Case Reports in Clinical Medicine,
2, 141-142. doi:
10.4236/crcm.2013.22038.
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